Linked Data
ClinVar Variation Id:
629882
dbSNP Id:
rs763760515
ExAC:
2:215657185 A / T
gnomAD v2:
2-215657185-A-T
gnomAD v4:
2-214792461-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214792461A>T , CM000664.2:g.214792461A>T | GRCh38 |
| NC_000002.11:g.215657185A>T , CM000664.1:g.215657185A>T | GRCh37 |
| NC_000002.10:g.215365430A>T | NCBI36 |
| NG_012047.2:g.22244T>A | |
| NG_012047.3:g.22251T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.216-16T>A MANE Select | ENSP00000260947.4:n.216-16T>A | |
| ENST00000421162.2:c.215+4600T>A | ENSP00000392245.2:n.215+4600T>A | |
| ENST00000613192.2:c.158+16951T>A | ENSP00000483275.2:n.158+16951T>A | |
| ENST00000613374.5:c.158+16951T>A | ENSP00000484464.1:n.158+16951T>A | |
| ENST00000613706.5:c.216-16T>A | ENSP00000484976.2:n.216-16T>A | |
| ENST00000617164.5:c.159-16T>A | ENSP00000480470.1:n.159-16T>A | |
| ENST00000619009.5:c.216-16T>A | ENSP00000482293.1:n.216-16T>A | |
| ENST00000650978.1:c.58-16T>A | ||
| ENST00000260947.8:c.216-16T>A | ENSP00000260947.4:n.216-16T>A | |
| ENST00000421162.1:c.215+4600T>A | ENSP00000392245.1:n.215+4600T>A | |
| ENST00000455743.5:c.215+4600T>A | ENSP00000412186.1:n.215+4600T>A | |
| ENST00000471787.1:n.260-10952T>A | ||
| ENST00000613192.1:c.73+16951T>A | ENSP00000483275.1:n.73+16951T>A | |
| ENST00000613374.4:c.158+16951T>A | ENSP00000484464.1:n.158+16951T>A | |
| ENST00000613706.4:c.215+4600T>A | ENSP00000484976.1:n.215+4600T>A | |
| ENST00000617164.4:c.159-16T>A | ENSP00000480470.1:n.159-16T>A | |
| ENST00000619009.4:c.216-16T>A | ENSP00000482293.1:n.216-16T>A | |
| ENST00000620057.4:c.216-16T>A | ENSP00000481988.1:n.216-16T>A | |
| NM_000465.3:c.216-16T>A | NP_000456.2:n.216-16T>A | |
| NM_001282543.1:c.159-16T>A | NP_001269472.1:n.159-16T>A | |
| NM_001282545.1:c.215+4600T>A | NP_001269474.1:n.215+4600T>A | |
| NM_001282548.1:c.158+16951T>A | NP_001269477.1:n.158+16951T>A | |
| NM_001282549.1:c.216-16T>A | NP_001269478.1:n.216-16T>A | |
| NR_104212.1:n.357+4600T>A | ||
| NR_104215.1:n.301-10952T>A | ||
| NR_104216.1:n.358-16T>A | ||
| XM_011511567.1:c.162-16T>A | XP_011509869.1:n.162-16T>A | |
| XM_011511568.1:c.216-16T>A | XP_011509870.1:n.216-16T>A | |
| XM_017004613.1:c.315-16T>A | XP_016860102.1:n.315-16T>A | |
| XM_017004614.1:c.315-16T>A | XP_016860103.1:n.315-16T>A | |
| XR_002959322.1:n.406-16T>A | ||
| NM_000465.4:c.216-16T>A MANE Select | NP_000456.2:n.216-16T>A | |
| NM_001282543.2:c.159-16T>A | NP_001269472.1:n.159-16T>A | |
| NM_001282545.2:c.215+4600T>A | NP_001269474.1:n.215+4600T>A | |
| NM_001282548.2:c.158+16951T>A | NP_001269477.1:n.158+16951T>A | |
| NM_001282549.2:c.216-16T>A | NP_001269478.1:n.216-16T>A | |
| NR_104212.2:n.329+4600T>A | ||
| NR_104215.2:n.273-10952T>A | ||
| NR_104216.2:n.330-16T>A |